A pipeline for ranking nonsynonymous single nucleotide variants given a specific phenotype. eXtasy takes into account the putative deleteriousness of the variant, haploinsufficiency predictions of the underlying gene and the similarity of the given gene to known genes in the given phenotype.

eXtasy in pipelines

[…] based on patient phenotype similarity to hpo terms associated with omim disease, and, as we have also observed, this comparison to known human phenotypes is frequently all that is necessary. extasy also incorporates multiple lines of evidence, including clinical phenotypes to predict the deleteriousness of nonsynonymous mutations. phevor compares patients and diseases by using […]

[…] data and prioritization of genomic variants (reviewed in –). these include, but not limited to genemania , string , , toppgene , endeavour widely used by the scientific community. the extasy platform developed by sifrim et al. prioritizes mutations for follow-up validation studies by integrating variant-impact and haploinsufficiency predictions with phenotype-specific […]

To access a full list of citations, you will need to upgrade to our premium service.

eXtasy in publications

[…] genes have no known phenotype associations a random-walk-with-restart algorithm scores proximity to other genes in protein-protein association networks which are implicated in patient phenotypes., extasy employs genomic data fusion to quantify the deleteriousness of nonsynonymous variants which are prioritised dependent on disease phenotypes. extasy evaluates patient data against ten measures […]

[…] by a grant financed by the netherlands organisation for scientific research (nwo), as part of research programme no. 613.001.009. b.l. was supported by grant no. ep/k039512/1, grant no. si2-che: extasy (extensible tools for advanced sampling and analysis) from the engineering and physical sciences research council (uk) and a faculty fellowship from the alan turing institute (ati)., […]

[…] the authors in the lammps software package (http://www.lammps.sandia.gov). moreover, the g-baoab scheme is also currently being implemented in the molecular integrator software tools package of the extasy project (http://www.extasy-project.org). using mist, the g-baoab algorithm will be available in conjunction with amber (http://www.ambermd.org) and gromacs (http://www.gromacs.org) (with […]

[…] based on patient phenotype similarity to hpo terms associated with omim disease, and, as we have also observed, this comparison to known human phenotypes is frequently all that is necessary. extasy also incorporates multiple lines of evidence, including clinical phenotypes to predict the deleteriousness of nonsynonymous mutations. phevor compares patients and diseases by using […]

To access a full list of publications, you will need to upgrade to our premium service.